N. Chassaing

N. Chassaing, D. Chauveau, S. Faguer, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

P. Calvas, N. Chassaing, N. Ragge, 2019, Human Genetics.

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

N. Chassaing, T. Bardakjian, L. Reis, 2022, European Journal of Human Genetics.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

F. Rivier, O. Patat, P. Calvas, 2016, American journal of medical genetics. Part A.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

O. Patat, N. Chassaing, C. V. van Ravenswaaij-Arts, 2013, Molecular Syndromology.

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

A. Toutain, P. Calvas, N. Chassaing, 2007, American journal of medical genetics. Part A.

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

L. Bouneau, O. Patat, P. Calvas, 2017, European journal of medical genetics.

mutations ABCC6 novel al and genetic update including 11 Pseudoxanthoma elasticum: a clinical,

P. Calvas, N. Chassaing, A. Hovnanian, 2005 .

Novel ABCC6 mutations in pseudoxanthoma elasticum.

P. Calvas, N. Chassaing, A. Hovnanian, 2004, The Journal of investigative dermatology.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

S. Terry, N. Chassaing, T. Hefferon, 2011, Journal of the American Academy of Dermatology.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature

N. Chassaing, J. Plaisancié, F. Metge, 2023, American journal of medical genetics. Part A.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

N. Chassaing, V. Gaston, E. Bieth, 2016, American journal of human genetics.

From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up

N. Chassaing, Alexia Vinel, S. Laurencin-Dalicieux, 2021, Healthcare.

X‐linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic‐dental phenotypic findings

A. Smahi, C. Bodemer, P. Calvas, 2010, Clinical genetics.

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Allen D. Delaney, H. Baier, P. Kwok, 2010, PloS one.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

N. Chassaing, B. Gilbert-Dussardier, C. Rooryck, 2010, Human molecular genetics.

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype

S. Julia, P. Calvas, N. Chassaing, 2004, American journal of medical genetics. Part A.

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

S. Julia, P. Calvas, N. Chassaing, 2002, Journal of medical genetics.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

A. Toutain, N. Chassaing, W. Carré, 2016, Human mutation.

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

R. Holt, P. Calvas, N. Chassaing, 2019, Human Genetics.

Mutations in EDAR account for one‐quarter of non‐ED1‐related hypohidrotic ectodermal dysplasia

P. Calvas, N. Chassaing, M. Cossée, 2006, Human mutation.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Stephen W. Wilson, R. Holt, E. van Binsbergen, 2019, American journal of human genetics.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, American journal of human genetics.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

N. Chassaing, A. Paepe, P. Coucke, 2010, Journal of Human Genetics.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

P. Gressens, A. Toutain, N. Chassaing, 2012, European Journal of Human Genetics.

School level of children carrying a HNF1B variant or a deletion

N. Chassaing, C. Bellanné-Chantelot, F. Broux, 2019, European Journal of Human Genetics.

School level of children carrying a HNF1B variant or a deletion

N. Chassaing, C. Bellanné-Chantelot, F. Broux, 2019, European Journal of Human Genetics.

The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

P. Calvas, N. Chassaing, J. Schanstra, 2014, Kidney international.

Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation

N. Chassaing, D. Chauveau, S. Decramer, 2009, NDT plus.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Yusuke Nakamura, Toshihiro Tanaka, A. Munnich, 2015, American journal of human genetics.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Luciana Rodrigues da Silva, R. Holt, P. Calvas, 2018, Human Genetics.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

A. Smahi, A. Munnich, P. Guigue, 2010, The British journal of dermatology.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

P. Calvas, N. Chassaing, C. Gilissen, 2020, Journal of Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia

P. Calvas, N. Chassaing, C. Rieubland, 2010, Molecular vision.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

P. Calvas, N. Chassaing, M. Cortón, 2023, International journal of molecular sciences.

Missense mutations of conserved glycine residues in fibrillin‐1 highlight a potential subtype of cb‐EGF‐like domains

C. Béroud, N. Chassaing, V. Drouin‐Garraud, 2010, Human mutation.

Manifestations of pseudoxanthoma elasticum in childhood

N. Chassaing, D. Bonneau, L. Martín, 2009, The British journal of dermatology.

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

N. Chassaing, D. Bonneau, O. Le Saux, 2008, Archives of dermatology.

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

N. Chassaing, M. Le Bert, L. Martín, 2007, Journal of the European Academy of Dermatology and Venereology : JEADV.

Pseudoxanthoma elasticum and nephrolithiasis

N. Chassaing, J. Bazex, L. Lamant, 2005, Journal of the European Academy of Dermatology and Venereology : JEADV.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Immunohistochemical characterization of elastofibroma and exclusion of ABCC6 as a predisposing gene

N. Chassaing, P. Michenet, L. Martín, 2007, The British journal of dermatology.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

[Evolution of genetic testing techniques].

N. Chassaing, A. Vigouroux, 2009, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.

P. Calvas, N. Chassaing, A. Vigouroux, 2009, Genetic testing and molecular biomarkers.

Confirmation of RAX gene involvement in human anophthalmia

P. Calvas, N. Chassaing, F. Malecaze, 2008, Clinical genetics.

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency

N. Chassaing, S. Albrecht, C. Jardel, 2022, Molecular Syndromology.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

E. M. DeGennaro, Kiely N. James, Michael E. Coulter, 2020, Genetics in Medicine.

Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia

P. Calvas, N. Chassaing, F. Tiziano, 2009, Human mutation.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Re-focusing on Agnathia-Otocephaly complex

P. Calvas, N. Chassaing, D. Lacombe, 2020, Clinical Oral Investigations.

OTX2 mutations contribute to the otocephaly-dysgnathia complex

C. Mercer, E. Jabs, N. Katsanis, 2012, Journal of Medical Genetics.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

Clinical and genetic characteristics of enhanced S‐cone syndrome in a Tunisian cohort: experience of the oculogenetic laboratory LR14SP01

T., C. Kostic, P. Calvas, 2018, Acta Ophthalmologica.

Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia

P. Calvas, N. Chassaing, A. Kariminejad, 2013, Clinical genetics.

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

N. Chassaing, J. Wilczyński, D. Nowakowska, 2017, Birth defects research.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Calcineurin Inhibitors Downregulate HNF-1&bgr; and May Affect the Outcome of HNF1B Patients After Renal Transplantation

N. Chassaing, J. Schanstra, L. Rostaing, 2016, Transplantation.

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?

N. Chassaing, D. Chauveau, S. Decramer, 2012, European Journal of Medical Genetics.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

K. Doheny, E. Jabs, A. F. Scott, 2014, JAMA ophthalmology.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations

R. Holt, N. Chassaing, D. Bax, 2023, Journal of Medical Genetics.

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

P. Calvas, N. Chassaing, D. Bax, 2023, European Journal of Human Genetics.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Donnai‐Barrow syndrome: Four additional patients

P. Calvas, N. Chassaing, D. Lacombe, 2003, American journal of medical genetics. Part A.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Prenatal diagnosis of Norrie disease based on ultrasound findings

P. Calvas, N. Chassaing, A. Sévely, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

F. Rivier, O. Patat, P. Calvas, 2016, American journal of medical genetics. Part A.

Confirmation of RAX gene involvement in human anophthalmia

P. Calvas, N. Chassaing, François Malecaze, 2008, Clinical genetics.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

A. Smahi, C. Bodemer, A. Munnich, 2011, Human mutation.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

X‐linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

N. Chassaing, B. Gilbert-Dussardier, D. Lacombe, 2005, American journal of medical genetics. Part A.

X‐linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic‐dental phenotypic findings

A. Smahi, C. Bodemer, P. Calvas, 2010, Clinical genetics.